Property Summary

NCBI Gene PubMed Count 19
PubMed Score 54.02
PubTator Score 42.03

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
intraductal papillary-mucinous adenoma (... 1.100 4.1e-03
active Crohn's disease 1.200 6.3e-03

 IMPC Phenotype (1)

Gene RIF (5)

PMID Text
25649379 In title.
24157261 Was detected in the patient's ALG1-coding sequence.
22966035 Family study defining the phenotype of deficiency of beta-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Four novel ALG1 mutations were identified.
20679665 DNA sequencing of ALG1 revealed nine different mutations, seven of which have not been previously reported. Clinical presentations of deficiency are severe, with dysmorphias, CNS involvement and ocular disturbances
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCN      1 - 70
SKPHDELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAV     71 - 140
CWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIR    141 - 210
AVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALL    211 - 280
VSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEA    281 - 350
EDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQL    351 - 420
QMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT                              421 - 464
//

Text Mined References (23)

PMID Year Title
26931382 2016 ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
25649379 2015 Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation.
24157261 2014 ALG1-CDG: a new case with early fatal outcome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22966035 2012 Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
22359512 2012 Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
21269460 2011 Initial characterization of the human central proteome.
20679665 2010 Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19946888 2010 Defining the membrane proteome of NK cells.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14973782 2004 Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
14973778 2004 Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik.
14709599 2004 Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10704531 2000 Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1.